Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs231362
rs231362
KCNQ1 ; KCNQ1OT1
1.000 0.080 11 2670241 non coding transcript exon variant A/G snv 0.62
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.840 1.000 10 2010 2019
dbSNP: rs231361
rs231361
KCNQ1 ; KCNQ1OT1
1.000 0.080 11 2670270 non coding transcript exon variant G/A snv 0.31
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.800 1.000 1 2012 2012
dbSNP: rs199472784
rs199472784
KCNQ1 ; KCNQ1OT1
1.000 0.120 11 2661997 missense variant C/T snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.700 1.000 20 1996 2015
dbSNP: rs775537394
rs775537394
KCNQ1 ; KCNQ1OT1
1.000 0.120 11 2661960 splice acceptor variant G/T snv 4.0E-06
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 1.000 6 1997 2016
dbSNP: rs397508091
rs397508091
KCNQ1 ; KCNQ1OT1
0.925 0.120 11 2662080 stop gained C/T snv
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.700 1.000 2 2009 2009
dbSNP: rs10832417
rs10832417
KCNQ1 ; KCNQ1OT1
11 2631427 non coding transcript exon variant T/G snv 0.32
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		0.700 1.000 1 2013 2013
dbSNP: rs10832417
rs10832417
KCNQ1 ; KCNQ1OT1
11 2631427 non coding transcript exon variant T/G snv 0.32
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2013 2013
dbSNP: rs10832417
rs10832417
KCNQ1 ; KCNQ1OT1
11 2631427 non coding transcript exon variant T/G snv 0.32
CUI: C1306620
Disease: Systolic blood pressure measurement
Systolic blood pressure measurement 		0.700 1.000 1 2013 2013
dbSNP: rs117601636
rs117601636
KCNQ1 ; KCNQ1OT1
1.000 0.080 11 2620807 non coding transcript exon variant A/G snv 5.5E-03
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 1.000 1 2016 2016
dbSNP: rs151216
rs151216
KCNQ1 ; KCNQ1OT1
11 2659585 non coding transcript exon variant C/T snv 0.11
CUI: C0005612
Disease: Birth Weight
Birth Weight 		0.700 1.000 1 2019 2019
dbSNP: rs231350
rs231350
KCNQ1 ; KCNQ1OT1
11 2692419 non coding transcript exon variant C/A snv 0.42
CUI: C0005612
Disease: Birth Weight
Birth Weight 		0.700 1.000 1 2019 2019
dbSNP: rs231356
rs231356
KCNQ1 ; KCNQ1OT1
0.925 0.080 11 2684113 non coding transcript exon variant A/G;T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 1.000 1 2014 2014
dbSNP: rs7128926
rs7128926
KCNQ1 ; KCNQ1OT1
11 2675514 non coding transcript exon variant A/G snv 0.23
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs77402029
rs77402029
KCNQ1 ; KCNQ1OT1
1.000 0.080 11 2619190 non coding transcript exon variant G/A;T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 1.000 1 2019 2019
dbSNP: rs78695585
rs78695585
KCNQ1 ; KCNQ1OT1
11 2623314 non coding transcript exon variant G/A;C snv
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.700 1.000 1 2017 2017
dbSNP: rs874031
rs874031
KCNQ1 ; KCNQ1OT1
11 2691336 non coding transcript exon variant T/C snv 2.2E-03
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.700 1.000 1 2019 2019
dbSNP: rs1554903804
rs1554903804
KCNQ1 ; KCNQ1OT1
1.000 0.080 11 2661991 frameshift variant ATGC/- delins
CUI: C4551509
Disease: Jervell And Lange-Nielsen Syndrome 1
Jervell And Lange-Nielsen Syndrome 1 		0.700 0
dbSNP: rs397508091
rs397508091
KCNQ1 ; KCNQ1OT1
0.925 0.120 11 2662080 stop gained C/T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs794728558
rs794728558
KCNQ1 ; KCNQ1OT1
1.000 0.120 11 2662012 frameshift variant C/- delins 8.0E-06
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 0
dbSNP: rs231356
rs231356
KCNQ1 ; KCNQ1OT1
0.925 0.080 11 2684113 non coding transcript exon variant A/G;T snv
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.010 1.000 1 2016 2016
dbSNP: rs231356
rs231356
KCNQ1 ; KCNQ1OT1
0.925 0.080 11 2684113 non coding transcript exon variant A/G;T snv
CUI: C0011847
Disease: Diabetes
Diabetes 		0.010 1.000 1 2016 2016
dbSNP: rs7929804
rs7929804
KCNQ1 ; KCNQ1OT1
11 2619594 non coding transcript exon variant G/A snv 0.49
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		0.010 1.000 1 2017 2017